Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.100 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker group BEFREE The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. 31500643 2019
Entrez Id: 4715
Gene Symbol: NDUFB9
NDUFB9 		0.100 Biomarker group HPO
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.100 Biomarker group HPO
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.100 Biomarker group HPO
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5 		0.100 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 GeneticVariation group BEFREE Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. 19319978 2009
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		0.100 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 GeneticVariation group BEFREE Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. 21036400 2011
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.100 Biomarker group HPO
Entrez Id: 4514
Gene Symbol: COX3
COX3 		0.100 Biomarker group HPO
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		0.100 Biomarker group HPO
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10 		0.100 Biomarker group HPO
Entrez Id: 4539
Gene Symbol: ND4L
ND4L 		0.100 Biomarker group HPO
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.100 Biomarker group HPO
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.100 Biomarker group HPO
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3 		0.100 Biomarker group HPO
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5 		0.100 Biomarker group HPO
Entrez Id: 10102
Gene Symbol: TSFM
TSFM 		0.100 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 GeneticVariation group BEFREE Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. 19900585 2010
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9 		0.100 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker group LHGDN OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. 18222991 2008
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 GeneticVariation group BEFREE The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism. 25820230 2015
Entrez Id: 338
Gene Symbol: APOB
APOB 		0.100 Biomarker group HPO
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		0.100 Biomarker group HPO